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2011 Grants - Pericak-Vance
Whole Exome Sequencing in Early Onset Alzheimer Disease
Margaret A. Pericak-Vance, Ph.D.
University of Miami School of Medicine
2011 Multi-Center Project Grant
Some cases of Alzheimer's disease are directly caused by genetic mutations, and other genetic variations increase a person's risk of the disease. When someone has a genetic mutation that directly causes Alzheimer's disease, they usually develop the disease at a relatively young age — less than 65 years. These mutations are inherited, causing some families to have a strong history of early-onset Alzheimer's disease.
The genetic mutations responsible for inherited early-onset Alzheimer's disease are known in about 60 to70 percent of cases. Margaret A. Pericak-Vance, Ph.D., and colleagues have proposed using new genetic sequencing technologies to identify genetic mutations responsible for other cases of early-onset Alzheimer's disease. Dr. Pericak-Vance has proposed a collaborative project between her laboratory and three other laboratories led by Joseph Buxbaum at Mount Sinai School of Medicine, Richard Mayeux at Columbia University and Jonathan Haines at Vanderbilt University.
Dr. Pericak-Vance's laboratory will determine the genetic sequence of all DNA regions that code proteins in people who have a strong family history of early-onset Alzheimer's disease but who do not have one of the identified genetic mutations associated with this condition. The goal of this work is to identify previously unknown genetic mutations that cause early-onset disease. Dr. Buxbaum's laboratory will characterize the molecular function of these mutated genes, Dr. Mayeux's laboratory will study how the mutations affect brain function, and Dr. Haines' laboratory will study potential drugs to prevent the mutations from causing disease. This multipart, collaborative research program may help to identify previously unknown genetic mutations that cause early-onset Alzheimer's disease, and provide initial information about ways to overcome the detrimental effects of those mutations.